Complex presentation of neonatal arthrogryposis multiplex congenita: insights into a multifactorial disorder.
Sujith Botsa, Sanjana Somanath Hansoge, Nishant Banait et al.
✦ AI-curated · Sources linked
Case in brief
A neonate with amyoplasia-type arthrogryposis multiplex congenita had bilateral talipes equinovarus, elbow contractures, ulnar wrist deviation and clinodactyly, with mild hip dysplasia and a small atrial septal defect. Genetic testing identified heterozygous variants of uncertain significance in SYNE1 and CHD4, each inherited from an asymptomatic parent. Although these genes are associated with other disorders, their relevance to the infant’s findings was unclear. The report calls for further genetic investigation and long-term follow-up to clarify the genotype–phenotype relationship.
What made this case unusual
The combination of two inherited variants of uncertain significance in genes associated with different disorders complicated interpretation; neither variant’s contribution to the amyoplasia phenotype was established.
Diagnostic / clinical pearl
Variants of uncertain significance, even in genes linked to related conditions, do not establish the cause of a complex congenital phenotype; parental findings and clinical follow-up inform interpretation.